Article
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.
American journal of human genetics - 1 Oct 1995
Schleutker J, Leppänen P, Månsson J E, Erikson A, Weissenbach J, Peltonen L, Aula P
Abstract excerpt
Similarities in biochemical findings have suggested that Salla disease (SD) and the infantile form of sialic acid storage disease (ISSD) could represent allelic disorders, despite their drastically different clinical phenotypes. SD and ISSD are both characterized by lysosomal storage of free N-ac...
Topics
- Alleles
- Chromosomes, Human, Pair 6
- DNA, Satellite
- Finland
- Genetic Linkage
- Haplotypes
- Humans
- Lod Score
- Lysosomal Storage Diseases
- N-Acetylneuraminic Acid
- Phenotype
- Polymorphism, Genetic
- Sialic Acids
- Sweden